Canonical Allele Identifier: CA2634870312

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719814-A-AAGAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719815_88719820dup , CM000678.2:g.88719815_88719820dup	GRCh38
NC_000016.9:g.88786223_88786228dup , CM000678.1:g.88786223_88786228dup	GRCh37
NC_000016.8:g.87313724_87313729dup	NCBI36
NG_042229.1:g.70401_70406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6305_6310dup MANE Select	ENSP00000301015.9:p.Leu2103_Phe2104insTyrLeu
ENST00000466823.3:c.331_336dup
ENST00000301015.13:c.6305_6310dup	ENSP00000301015.9:p.Leu2103_Phe2104insTyrLeu
ENST00000419505.5:c.71_76dup	ENSP00000406358.1:p.Leu25_Phe26insTyrLeu
ENST00000466823.2:c.331_336dup
ENST00000495568.7:n.546_551dup
ENST00000497793.2:n.460_465dup
NM_001142864.2:c.6305_6310dup	NP_001136336.2:p.Leu2103_Phe2104insTyrLeu
NM_001142864.3:c.6305_6310dup	NP_001136336.2:p.Leu2103_Phe2104insTyrLeu
NM_001142864.4:c.6305_6310dup MANE Select	NP_001136336.2:p.Leu2103_Phe2104insTyrLeu